| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Limb-girdle muscular dystrophy-1 (LGMDR1) | Muscular dystrophy, limb-girdle | Autosomal Recessive | 15q15.1 | Substitution | c.379 + 3A>G | p.Asp128Glyfs*15 | Frameshift | Khan et al., 2022/2022 |
